HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225367C>T , CM000668.2:g.3225367C>T | GRCh38 |
NC_000006.11:g.3225601C>T , CM000668.1:g.3225601C>T | GRCh37 |
NC_000006.10:g.3170600C>T | NCBI36 |
NG_016715.1:g.7368G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259818.8:c.722G>A MANE Select | ENSP00000259818.6:p.Arg241His | |
ENST00000680070.1:n.1652G>A | ||
ENST00000681707.1:n.1549G>A | ||
ENST00000681757.1:n.1027G>A | ||
ENST00000259818.7:c.722G>A | ENSP00000259818.6:p.Arg241His | |
ENST00000473006.1:n.839G>A | ||
NM_178012.4:c.722G>A | NP_821080.1:p.Arg241His | |
XM_011514571.1:c.506G>A | XP_011512873.1:p.Arg169His | |
NM_178012.5:c.722G>A MANE Select | NP_821080.1:p.Arg241His |